by: Kate Wilson and Iker Farez Overview: DiGeorge Syndrome is a rare genetic condition that affects fewer then 200,000 children every year, this disorder causes features of a new born to be poorly developed, this disorder is usually characterized at birth and is fatal due to the malformation of important features of the body such as the mouth, nose, or shape of the head. Signs & Symptoms:
The signs of this disorder are death due to suffocation at birth, delayed development, speech delay, and learning disabilities, heart defects, vitamin deficiencies, and immune system problems. Life expectancy for DiGeorge syndrome is the same as a regular person but due to constant health problems people who reach adulthood with DiGeorge syndrome typically live less then a person that does not have the syndrome.
Image result for digeorge syndrome
Genetics:
This genetic disorder is a result of mutation that deletes a section of chromosome 22. This mutation comes from either the sperm or egg as passed down from one parent to create the genetic disorder in a child. Equal numbers of both sex have passed down this disorder. Distribution:
In the United States, studies show that 0.7 percent of 3469 postmortem examinations in the Seattle, Washington, area over a period of 25 years. Internationally, the syndrome was thought to be in 20,000 people in Germany and one case per 66,000 people in Australia. This disease is not very common. It occurs in 1 in 4,000, the underlying reason of which group of people affected in unknown. Management and Treatment:
Although there is no cure for DiGeorge Syndrome there are surgeries that one can undergo in order to make facial structures appear less affected, in addition to cosmetic surgery there are also supplements that allow necessary vitamins to be given to people with DiGeorge Syndrome as well as stem cell transplantation that can aid someone with the syndrome to develop a stronger immune system. Miscellaneous:
DiGeorge Syndome is also known as Cayler Cardio facial Syndrome and Sedlackova Syndrome. The missing section on the 22nd chromosome is rarely inherited and is usually random. The systems of this syndrome depend on which organ is affected by the syndrome. Different fields of medicine will be needed to treat the syndrome, though there is no cure. Society's View:
This mutation causes many problems throughout the human body. Though the effects of the disorder vary upon each person, common issues are known as, learning difficulties, hearing problems, difficulty consuming food, and appearance. These things can make a normal everyday life more challenging. Learning issues can lead to job loss for if someone can not maintain the information and complete the tasks, then there is trouble in finding jobs. Many though, do find jobs and maintain a normal life, but social isolation and employment problems are possible. Behavioral issues, mental health issues, and learning issues will follow people with this syndrome into adulthood. People with DiGeorge Syndrome are capable of contributing to everyday life and can maintain a normal life. Each person has the capability, it is up to the one's affected to decide how they want to life their lives. (2) History:
DiGeorge Syndrome was named after Angelo DiGeorge (an American Physician) after commenting on a paper written by Dr Max Cooper about the syndrome. Extra Info:
Many people might be underdiagnosed or not even aware that they have the syndrome. Only 1 person in 4,000 will be affected.
References: Warlick, Heather. “DiGeorge SyndromeGene Disorder Can Be Fatal for Babies.”NewsOK.com, NewsOK, 8 Apr. 2008, newsok.com/article/3226744. (1)
“Local Offer.” NHS Choices - 22q11 Deletion (DiGeorge Syndrome) | Chesire West and Cheshire Local Offer, www.westcheshirelocaloffer.co.uk/kb5/cheshirewestandchester/directory/advice.page?id=OweOw97wp-8. (3)
“DiGeorge Syndrome (22q11.2 Deletion Syndrome).” Mayo Clinic, Mayo Foundation for Medical Education and Research, 18 July 2017, www.mayoclinic.org/diseases-conditions/digeorge-syndrome/symptoms-causes/syc-20353543.
“22q11.2 Deletion Syndrome.” Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services, rarediseases.info.nih.gov/diseases/10299/22q112-deletion-syndrome. (4)
DiGeorge Syndrome
by: Kate Wilson and Iker FarezOverview: DiGeorge Syndrome is a rare genetic condition that affects fewer then 200,000 children every year, this disorder causes features of a new born to be poorly developed, this disorder is usually characterized at birth and is fatal due to the malformation of important features of the body such as the mouth, nose, or shape of the head.
Signs & Symptoms:
The signs of this disorder are death due to suffocation at birth, delayed development, speech delay, and learning disabilities, heart defects, vitamin deficiencies, and immune system problems. Life expectancy for DiGeorge syndrome is the same as a regular person but due to constant health problems people who reach adulthood with DiGeorge syndrome typically live less then a person that does not have the syndrome.
Genetics:
This genetic disorder is a result of mutation that deletes a section of chromosome 22. This mutation comes from either the sperm or egg as passed down from one parent to create the genetic disorder in a child. Equal numbers of both sex have passed down this disorder.
Distribution:
In the United States, studies show that 0.7 percent of 3469 postmortem examinations in the Seattle, Washington, area over a period of 25 years. Internationally, the syndrome was thought to be in 20,000 people in Germany and one case per 66,000 people in Australia. This disease is not very common. It occurs in 1 in 4,000, the underlying reason of which group of people affected in unknown.
Management and Treatment:
Although there is no cure for DiGeorge Syndrome there are surgeries that one can undergo in order to make facial structures appear less affected, in addition to cosmetic surgery there are also supplements that allow necessary vitamins to be given to people with DiGeorge Syndrome as well as stem cell transplantation that can aid someone with the syndrome to develop a stronger immune system.
Miscellaneous:
DiGeorge Syndome is also known as Cayler Cardio facial Syndrome and Sedlackova Syndrome. The missing section on the 22nd chromosome is rarely inherited and is usually random. The systems of this syndrome depend on which organ is affected by the syndrome. Different fields of medicine will be needed to treat the syndrome, though there is no cure.
Society's View:
This mutation causes many problems throughout the human body. Though the effects of the disorder vary upon each person, common issues are known as, learning difficulties, hearing problems, difficulty consuming food, and appearance. These things can make a normal everyday life more challenging. Learning issues can lead to job loss for if someone can not maintain the information and complete the tasks, then there is trouble in finding jobs. Many though, do find jobs and maintain a normal life, but social isolation and employment problems are possible. Behavioral issues, mental health issues, and learning issues will follow people with this syndrome into adulthood. People with DiGeorge Syndrome are capable of contributing to everyday life and can maintain a normal life. Each person has the capability, it is up to the one's affected to decide how they want to life their lives. (2)
History:
DiGeorge Syndrome was named after Angelo DiGeorge (an American Physician) after commenting on a paper written by Dr Max Cooper about the syndrome.
Extra Info:
Many people might be underdiagnosed or not even aware that they have the syndrome. Only 1 person in 4,000 will be affected.
References:
Warlick, Heather. “DiGeorge SyndromeGene Disorder Can Be Fatal for Babies.”NewsOK.com, NewsOK, 8 Apr. 2008, newsok.com/article/3226744. (1)
“Local Offer.” NHS Choices - 22q11 Deletion (DiGeorge Syndrome) | Chesire West and Cheshire Local Offer, www.westcheshirelocaloffer.co.uk/kb5/cheshirewestandchester/directory/advice.page?id=OweOw97wp-8. (3)
“DiGeorge Syndrome (22q11.2 Deletion Syndrome).” Mayo Clinic, Mayo Foundation for Medical Education and Research, 18 July 2017, www.mayoclinic.org/diseases-conditions/digeorge-syndrome/symptoms-causes/syc-20353543.
(2)
“22q11.2 Deletion Syndrome.” Genetic and Rare Diseases Information Center, U.S. Department of Health and Human Services, rarediseases.info.nih.gov/diseases/10299/22q112-deletion-syndrome. (4)